title: Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies.
abstract: Pol III-related leukodystrophies are caused by mutations in POLR3A and POLR3B genes and all share peculiar imaging and clinical features. The objectives of this study are (1) to define the neuroradiologic pattern in a cohort of POLR3A and POLR3B subjects and (2) to compare the neuroradiologic pattern of Pol III-related leukodystrophies with other hypomyelinating disorders. The magnetic resonance imaging (MRI) examinations of 13 patients with POLR3A and POLR3B mutations and of 14 patients with other hypomyelinating disorders were analyzed. All the subjects with Pol III-related leukodystrophies presented hypomyelination associated with T2 hypointensity of the thalami and/or the pallida. Twelve subjects (92%) presented T2 hypointensity of the optic radiations. Cerebellar atrophy was observed in most patients (92%). The combination of the analyzed criteria identified patients with Pol III-related leukodystrophies with a sensitivity of 84.6% and a specificity of 92.9%.
authors.affiliation: 1Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.
authors.forename: Roberta
authors.initials: R
authors.lastname: La Piana
authors.forename: Davide
authors.initials: D
authors.lastname: Tonduti
authors.forename: Heather
authors.initials: H
authors.lastname: Gordish Dressman
authors.forename: Johanna L
authors.initials: JL
authors.lastname: Schmidt
authors.forename: Jonathan
authors.initials: J
authors.lastname: Murnick
authors.forename: Bernard
authors.initials: B
authors.lastname: Brais
authors.forename: Genevieve
authors.initials: G
authors.lastname: Bernard
authors.forename: Adeline
authors.initials: A
authors.lastname: Vanderver
mesh_terms: D000293:Adolescent; D000328:Adult; D001284:Atrophy / Q000473:pathology; D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003711:Demyelinating Diseases / Q000473:pathology; D005260:Female; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D006801:Humans; D016015:Logistic Models; D008279:Magnetic Resonance Imaging; D008297:Male; D012320:RNA Polymerase III / Q000235:genetics; D012680:Sensitivity and Specificity; D055815:Young Adult
chemical_list: C585825:POLR3A protein, human; C468558:POLR3B protein, human; D012320:RNA Polymerase III
keywords: hypomyelination; leukodystrophy; magnetic resonance imaging